Homo sapiens Gene: TULP3
Summary
InnateDB Gene IDBG-12543.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TULP3
Gene Name tubby like protein 3
Synonyms TUBL3
Species Homo sapiens
Ensembl Gene ENSG00000078246
Encoded Proteins
tubby like protein 3
tubby like protein 3
tubby like protein 3
tubby like protein 3
tubby like protein 3
tubby like protein 3
tubby like protein 3
tubby like protein 3
tubby like protein 3
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the tubby gene family of bipartite transcription factors. Members of this family have been identified in plants, vertebrates, and invertebrates, and they share a conserved N-terminal transcription activation region and a conserved C-terminal DNA and phosphatidylinositol-phosphate binding region. The encoded protein binds to phosphoinositides in the plasma membrane via its C-terminal region and probably functions as a membrane-bound transcription regulator that translocates to the nucleus in response to phosphoinositide hydrolysis, for instance, induced by G-protein-coupled-receptor signaling. It plays an important role in neuronal development and function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:2877223-2941140
Strand Forward strand
Band p13.33
Transcripts
ENST00000397132 ENSP00000380321
ENST00000448120 ENSP00000410051
ENST00000540184 ENSP00000444110
ENST00000544943 ENSP00000442631
ENST00000538354 ENSP00000437899
ENST00000545331 ENSP00000441599
ENST00000541678 ENSP00000441319
ENST00000538704 ENSP00000440364
ENST00000610453 ENSP00000482208
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 6 [view]
Protein-Protein 3 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding
GO:0019899 enzyme binding
GO:0032403 protein complex binding
GO:0035091 phosphatidylinositol binding
Biological Process
GO:0001841 neural tube formation
GO:0001843 neural tube closure
GO:0006355 regulation of transcription, DNA-templated
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007275 multicellular organismal development
GO:0007420 brain development
GO:0008277 regulation of G-protein coupled receptor protein signaling pathway
GO:0008589 regulation of smoothened signaling pathway
GO:0009952 anterior/posterior pattern specification
GO:0021904 dorsal/ventral neural tube patterning
GO:0021914 negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning
GO:0021915 neural tube development
GO:0021953 central nervous system neuron differentiation
GO:0031076 embryonic camera-type eye development
GO:0042733 embryonic digit morphogenesis
GO:0045879 negative regulation of smoothened signaling pathway
GO:0048702 embryonic neurocranium morphogenesis
GO:0060173 limb development
GO:0060348 bone development
GO:0060434 bronchus morphogenesis
GO:0060831 smoothened signaling pathway involved in dorsal/ventral neural tube patterning
GO:0061548 ganglion development
GO:1901621 negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning
Cellular Component
GO:0005576 extracellular region
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005929 cilium
GO:0005930 axoneme
GO:0030991 intraciliary transport particle A
GO:0072372 primary cilium
GO:0097546 ciliary base
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Signaling by Hedgehog pathway
Signal Transduction pathway
Hedgehog 'off' state pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL B7Z6A2
UniProt Splice Variant
Entrez Gene 7289
UniGene Hs.621855 Hs.655333
RefSeq NM_001160408 NM_003324
HUGO HGNC:12425
OMIM 604730
CCDS CCDS53737 CCDS8519
HPRD 05292
IMGT
EMBL AC005911 AK299990
GenPept BAH13188
RNA Seq Atlas 7289